Summary statistics are available for download from the GWAS Catalog.
Publication
Genome-wide analysis of 944,133 individuals provides insights into the etiology of haemorrhoidal disease.
Zheng T, Ellinghaus D, Juzenas S, Cossais F, Burmeister G, Mayr G, et al.
Gut. 2021;70(8):1538–1549. doi: 10.1136/gutjnl-2020-323495.
PMID: 33888516
Phenotypes
- Hemorrhoids
Experiment summary
This GWAS meta-analysis included 218,920 HEM cases and 725,213 controls of European ancestry (N=944,133) and identified 102 independent risk loci. Genetic signals were enriched in blood vessels and gastrointestinal tissues and pathways related to smooth muscle, epithelial and endothelial biology; polygenic risk scores were validated in independent cohorts and associated with earlier onset and recurrent surgery.
Dataset ID
Zheng2021_Hemorrhoids_EU